BACKGROUND: A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
METHODS: We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.
CONCLUSIONS: The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.

Right aortic arch with isolation of left brachiocephalic artery is a rare congenital aortic arch anomaly. Herein, we reported a case of this rare anomaly with ventricular septal defect in a 9-month-old infant. We successfully reconstructed the islolated left brachiocephalic artery and repaired the ventricular septal defect in one stage.

Coronary artery fistulas (CAFs) are rare coronary anomalies involving the communication of an epicardial coronary artery and another cardiovascular structure. CAFs are usually easily distinguished from nearby coronary arteries. Here, we report a unique case of CAF that mimics the size, branching pattern, and appearance of a native epicardial left anterior descending artery.

暂无摘要。

Interrupted aortic arch (IAA) is a rare congenital heart condition where there is a complete discontinuation between the ascending and descending aorta. The association with a patent ductus arteriosus or developed arterial collateral allows survival until adulthood in extremely rare cases. We report a case series of adult forms of IAA. Even if the incidence is very rare, IAA should be could excluded in the setting of resistant asymmetrical hypertension. The first case is singular regarding its association with a bicuspid aortic valve and aortic aneurysm, while the second case is characterized by massive left ventricular hypertrophy. The diagnosis was suspected on echocardiographic findings and confirmed by computed tomography angiography. Both patients refused surgical repair given the high operative risk.
UNASSIGNED: -The evaluation of severe resistant high blood pressure should include complementary investigation for adult form interrupted aortic arch.-To understand the major impact of multimodality imaging for the recognition, localization, and stratification of interrupted aortic arch.

Lutembacher\'s syndrome is a rare disease defined as the combination of atrial septal defect and mitral stenosis, which relieves the progression of symptoms resulting from mitral stenosis. We present a case of a previously asymptomatic 70-year-old man having Lutembacher\'s syndrome with sinus venosus type of interatrial defect associated with partial anomalous pulmonary venous drainage. Our patient\'s only complaint was of mild exertional dyspnea, which started six months prior to referral. Clinical suspicion of the combination of defects arose during transthoracic echocardiography. The patient underwent transesophageal echocardiography and multi-slice computed tomography for defect confirmation. The combination of Lutembacher\'s syndrome with this complex deformity of pulmonary venous drainage has rarely been described. Such complex congenital defects with multifaceted physiological repercussions can go largely undiagnosed for the patients affected for most of their lifetimes.
CONCLUSIONS: Despite the complexity of Lutembacher\'s syndrome, including the involvement of several deformities and pathological mechanisms of mitral stenosis, sinus venosus type of interatrial defects with partial anomalous return in the pulmonary veins, the multiplicity of mechanisms involved contribute to altered hemodynamics.Multiple intersecting mechanisms can further contribute to delaying congenital heart disease presentation. Congenital heart disease remains a plausible differential in the evaluation of elderly patients presenting with exertional dyspnea.Adult congenital heart defects can have very late onset for presentation, especially with physiological processes that paradoxically reduce the severity and progression of symptoms.

UNASSIGNED: Ruptured sinus of Valsalva aneurysm is a rare disease entity that is potentially life-threatening if left untreated. While imaging is the mainstay of diagnosis, resultant tricuspid valve involvement may mask typical findings providing a diagnostic challenge. Disruption of the tricuspid valve during ruptured sinus of Valsalva aneurysm with consequent tricuspid regurgitation is rare and infrequently described in the literature. Description of the utility and limitations of multimodality imaging in this scenario is equally scarce.
UNASSIGNED: We review the case of a young patient presenting with acute ruptured sinus of Valsalva aneurysm and involvement of the tricuspid valve on a background of severe aortic regurgitation requiring multimodality imaging for diagnostic and pre-surgical assessment.
UNASSIGNED: In young patients presenting with acute decompensation and pre-existing bicuspid aortic valve regurgitation, an increased clinical suspicion of a sinus of Valsalva aneurysm rupture is imperative. Doppler and 3D transoesophageal echocardiographic assessment should be pursued to characterize abnormal flows and clarify aetiology in the context of tricuspid involvement and resultant tricuspid regurgitation. A large-volume left-right shunt in proximity to the tricuspid annulus may result in disproportionately severe tricuspid regurgitation in the absence of annular disruption due to forced systolic opening of the leaflets by shunt flow and \'windsock\' prolapse. Multimodality imaging can be essential in these cases to adequately assess the extent of the ruptured sinus of Valsalva aneurysm and overcome limitations of single modality imaging.

Glenn surgery is used as a palliative procedure in children with Hypoplastic Left Heart Syndrome (HLHS) and its objective is to partially redirect the systemic venous return. An individualized care plan is presented for a 7-month-old infant, admitted to the Pediatric Intensive Care Unit (PICU), after undergoing Glenn procedure. And is shown her evolution during admission. Marjorie Gordon\'s 11 functional health patterns are used for the nursing assessment, highlighting among the altered patterns, the nutritional-metabolic and the activity-exercise, due to their implication in hemodynamic changes derived from the surgery. Due to their association with the most common postoperative complications in this type of surgery, 8 diagnoses were prioritised according to NANDA-I taxonomy: risk for infection, excess fluid volume, risk for shock, risk for bleeding, risk for decreased cardiac output, impaired gas exchange, ineffective airway clearance and risk for ineffective cerebral tissue perfusion. In each of them, expected patient outcomes and nursing interventions, were selected using the NOC and NIC taxonomies, respectively. Outcome criteria scores showed a favourable evolution after 7 days from admission, only 3 of the diagnoses selected at the beginning remain active. The development and reassessment of the nursing care plan has made it possible to make an effective monitoring of patient\'s postoperative evolution and to standardize nursing care, ensuring safe and quality health care. The lack of similar case reports in available bibliography has prevented us from comparing actions, therefore it has been necessary to disclose these scientific articles to guarantee best evidence-based practice.

Congenital heart defects are common and complex birth-defect malformations in developed and developing countries. It is a multifactorial disease that involves the interaction of either gene-gene or gene-environment. This comparative study was the first report on the genotypic-phenotypic correlation in the Pakistani population. The single nucleotide polymorphisms (SNPs) were further tested for association with maternal diabetes mellitus or hypertension. In addition, the cumulative genetic risk score (GRS) for low to moderately-associated SNPs was calculated for each study subject, which can ultimately guide us for better therapeutic options and prevention strategies. According to the predefined selection criteria, 376 subjects were recruited. The multiplex mini-sequencing genotyping technique opted for the cost-effective genotyping of selected loci. The association of variants with the disease was examined using logistic regression analysis. The statistical and graphical analysis was conducted using SPSS, Haploview, SNPStats, and GraphPad Prism. The results for all SNPs analysis suggested a nonsignificant association with overall congenital heart defect risk except rs3809923. However, interestingly on stratified analysis variants, rs3809923 and rs3809922 showed an association only with tetralogy of Fallot. The remaining risk factor analysis for maternal hypertension and diabetes mellitus association with SNPs were nonsignificant. The GRS was the first time constructed for this low to moderately-associated variants. Interestingly, the cumulative GRS was significantly different from the control group revealing the cumulative effect of these polymorphisms panel in patients. In conclusion, the use of GRS in the clinical setting can predict better risk association and patient outcomes.

15q26 deletion is a rare genomic disorder characterized by intrauterine and postnatal growth retardation, microcephaly, intellectual disability, and congenital malformations. Here, we report a 4-month-old female with intrauterine growth retardation, short stature, pulmonary hypertension, atrial septal defect and congenital bowing of long bones of the legs. Chromosomal microarray analysis showed a de novo deletion of approximately 2.1 Mb at 15q26.3 region that does not include IGF1R. Our analysis of patients documented in the literature and the DECIPHER database with 15q26 deletions distal to IGF1R, including 10 patients with de novo pure deletions, allowed us to define the smallest region of overlap to 686 kb. This region includes ALDH1A3, LRRK1, CHSY1, SELENOS, SNRPA1, and PCSK6. We propose haploinsufficiency of one or more genes, besides IGF1R, within this region may contribute to the clinical findings in patients with 15q26.3 deletion.